同型半胱氨酸和蛋氨酸合成酶还原酶A66G基因多态性与 Alzheimer病的关系

目的探讨同型半胱氨酸(Hcy)和蛋氨酸合成酶还原酶(MSR)A66G基因多态性与Alzheimer病的关系.方法运用多聚酶链反应限制性内切酶片段长度多态性技术(PCR-RFLP)和荧光偏振法(FPIA)检测66例Alzheimer病及143例正常人MSR A66G基因多态性和血浆总Hcy水平.结果Alzheimer病组MSR A66G基因型频率(%)分别为39.39、59.09和1.52,对照组分别为37.76、59.44和2.80,MSR A66G各种基因型频率在患者组与正常对照组之间的差异无显著性(P＞0 05).Alzheimer病病例组与对照组血浆Hcy分别为(14.72±6.2)μmol/L和(10.9±2.4)μmol/L,两者差异有显著差异(P＜0.05).Alzheimer病患者血浆总Hcy水平显著高于正常组.结论MSRA66G多态性与Alzheimer病无明显相关,高同型半胱氨酸血症与Alzheimer病发生有一定关系.

The Correlations of Alzheimer's Disease and the Methionine Synthase Reductase Gene Polymorphism and the Plasma Homocysteine Level

Objective To study the correlations of Alzheimer's diseases and the polymorphism of methionine synthase reductase gene and plasma homocysteine level. Methods The genotypes of (MSR)A66G were determined by PCR-based assay and the plasma homocysteine levels were determined using FPIA method in 66 patients with Alzheimer's disease and in 143 healthy controls. Results There were no significant differences in the frequencies of MSR A66G mutations between the patients and healthy controls (P > 0.05). Mean total plasma homocysteine concentrations were significantly higher in the patients than in the normal subjects. Conclusion MSR A66G mutation may not be an independent risk factor of Alzheimer's disease. However, hyperhomocysteinemia may be an independent risk factor of Alzheimer's disease.